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73 results

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Page 1
A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis.
Zivony-Elboum Y, Westbroek W, Kfir N, Savitzki D, Shoval Y, Bloom A, Rod R, Khayat M, Gross B, Samri W, Cohen H, Sonkin V, Freidman T, Geiger D, Fattal-Valevski A, Anikster Y, Waters AM, Kleta R, Falik-Zaccai TC. Zivony-Elboum Y, et al. J Med Genet. 2012 Jul;49(7):462-72. doi: 10.1136/jmedgenet-2012-100742. Epub 2012 Jun 20. J Med Genet. 2012. PMID: 22717650
A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.
Falik-Zaccai TC, Erel-Segal R, Horev L, Bitterman-Deutsch O, Koka S, Chaim S, Keren Z, Kalfon L, Gross B, Segal Z, Orgal S, Shoval Y, Slor H, Spivak G, Hanawalt PC. Falik-Zaccai TC, et al. Environ Mol Mutagen. 2012 Aug;53(7):505-14. doi: 10.1002/em.21716. Epub 2012 Jul 23. Environ Mol Mutagen. 2012. PMID: 22826098
Clinical utility gene card for: Xeroderma pigmentosum.
Schubert S, Lehmann J, Kalfon L, Slor H, Falik-Zaccai TC, Emmert S. Schubert S, et al. Eur J Hum Genet. 2014 Jul;22(7). doi: 10.1038/ejhg.2013.233. Epub 2013 Oct 9. Eur J Hum Genet. 2014. PMID: 24105368 Free PMC article. Review. No abstract available.
Two novel mutations identified in familial cases with Donohue syndrome.
Falik Zaccai TC, Kalfon L, Klar A, Elisha MB, Hurvitz H, Weingarten G, Chechik E, Fleisher Sheffer V, Haj Yahya R, Meidan G, Gross-Kieselstein E, Bauman D, Hershkovitz S, Yaron Y, Orr-Urtreger A, Wertheimer E. Falik Zaccai TC, et al. Mol Genet Genomic Med. 2014 Jan;2(1):64-72. doi: 10.1002/mgg3.43. Epub 2013 Nov 14. Mol Genet Genomic Med. 2014. PMID: 24498630 Free PMC article.
Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy.
Falik Zaccai TC, Savitzki D, Zivony-Elboum Y, Vilboux T, Fitts EC, Shoval Y, Kalfon L, Samra N, Keren Z, Gross B, Chasnyk N, Straussberg R, Mullikin JC, Teer JK, Geiger D, Kornitzer D, Bitterman-Deutsch O, Samson AO, Wakamiya M, Peterson JW, Kirtley ML, Pinchuk IV, Baze WB, Gahl WA, Kleta R, Anikster Y, Chopra AK. Falik Zaccai TC, et al. Brain. 2017 Feb;140(2):370-386. doi: 10.1093/brain/aww295. Epub 2016 Dec 21. Brain. 2017. PMID: 28007986 Free PMC article.
Sequence variation in PPP1R13L results in a novel form of cardio-cutaneous syndrome.
Falik-Zaccai TC, Barsheshet Y, Mandel H, Segev M, Lorber A, Gelberg S, Kalfon L, Ben Haroush S, Shalata A, Gelernter-Yaniv L, Chaim S, Raviv Shay D, Khayat M, Werbner M, Levi I, Shoval Y, Tal G, Shalev S, Reuveni E, Avitan-Hersh E, Vlodavsky E, Appl-Sarid L, Goldsher D, Bergman R, Segal Z, Bitterman-Deutsch O, Avni O. Falik-Zaccai TC, et al. EMBO Mol Med. 2017 Mar;9(3):319-336. doi: 10.15252/emmm.201606523. EMBO Mol Med. 2017. PMID: 28069640 Free PMC article.
73 results